Confirm diagnosis of a known aneuploid syndrome or detect a chromosome translocation. This test is intended for constitutional studies. Refer to Cytogenomic SNP Microarray (2003414) for the PREFERRED FIRST-TIER test for intellectual disability, multiple anomalies, and autism-spectrum disorders. For chromosome analysis to evaluate for an oncology finding, refer to Chromosome Analysis, Leukemic Blood (2002290).
- Patient Preparation
- Green (sodium heparin).
- Specimen Preparation
- Do not freeze or expose to extreme temperatures. Transport 5 mL whole blood. (Min: 2 mL)
- Storage/Transport Temperature
- Room temperature.
- Unacceptable Conditions
- Frozen specimens. Clotted specimens.
- Ambient: 48 hours; Refrigerated: 48 hours; Frozen: Unacceptable
A processing fee will be charged if this procedure is canceled, at the client's request, after the test has been set up, or if the specimen integrity is inadequate to allow culture growth.
Specimen and completed test request form, including clinical indication, must be received within 48 hours of collection.
Testing on a neonate, 7 days old or younger, will automatically order a preliminary chromosome analysis (intended to identify whole chromosome aneuploidies and large structural rearrangements). This will be reported under the same accession number as the final chromosome report, and is generally available in 2-3 days, if sample quantity and metaphase quality permits. Final results will be available within 5-7 days.
This test must be ordered using Cytogenetic test request form #43097 or through your ARUP interface. Please submit the Patient History for Cytogenetic (Chromosome) Studies form with the electronic packing list (available at http://www.aruplab.com/genetics/forms.php).
|Component Test Code*||Component Chart Name||LOINC|
|0097640||Chromosome Analysis, Peripheral Blood||29770-5|
|2002205||EER Chromosome Analysis Peripheral Blood||11526-1|
- Chromosome Analysis, Congenital Disorders, Blood
- Chromosome rearrangement
- Chromosome Study
- Chromosomes, Cord Blood
- Congenital karyotype analysis
- Constitutional Study